R13G (p.Arg13Gly) variant of ALDH5A1 (P51649)
R13G (p.Arg13Gly) in ALDH5A1 (P51649) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- rs761736693
- gnomAD 6-24495030-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 19.10
- Population evidence available
- Structural context available
- Literature evidence available